Genomics England
GMS Panels
Panels
Genes and Entities

SMARCAL1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
OMIM: 606622
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immunoosseous dysplasia, OMIM:242900
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immunoosseous dysplasia, OMIM:242900
Green
in Proteinuric renal disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R195
Signed-off version 4.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immunoosseous dysplasia, OMIM:242900
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immunoosseous dysplasia, OMIM:242900